SLC1A1

solute carrier family 1 member 1

Summary

This gene encodes a member of the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. In brain, these transporters are crucial in terminating the postsynaptic action of the neurotransmitter glutamate, and in maintaining extracellular glutamate concentrations below neurotoxic levels. This transporter also transports aspartate, and mutations in this gene are thought to cause dicarboxylicamino aciduria, also known as glutamate-aspartate transport defect. [provided by RefSeq, Mar 2010]

Known Variants189 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7031998	9:4,490,134	T/G	—	benign
rs57533677	9:4,490,207	C/A	—	benign
rs559846052	9:4,490,469	C/T	—	likely benign
rs542813803	9:4,490,495	G/C	—	uncertain significance
rs12000219	9:4,490,513	C/G	—	likely benign
rs374187121	9:4,490,587	G/A	—	likely benign
rs868790014	9:4,490,594	G/C	—	uncertain significance
rs878886437	9:4,490,689	C/T	—	uncertain significance
rs2488733073	9:4,490,692	G/A	—	uncertain significance
rs774712467	9:4,490,702	G/A	—	uncertain significance
rs146145513	9:4,490,715	G/C	—	uncertain significance
rs369548800	9:4,490,724	G/A	—	likely benign
rs745861873	9:4,490,752	G/C	—	uncertain significance
rs2488733336	9:4,490,756	C/G	—	uncertain significance
rs2229885	9:4,490,760	G/T	—	likely benign
rs1189243934	9:4,490,770	G/C	—	uncertain significance
rs753091437	9:4,490,780	G/A	—	uncertain significance
rs12002726	9:4,490,880	T/C	—	benign
rs16921385	9:4,507,513	A/G	intron variant	—
rs895250373	9:4,517,868	C/T	—	—
rs7022369	9:4,527,752	C/T	—	—
rs1182048335	9:4,544,590	C/T	—	uncertain significance
rs749298509	9:4,544,595	A/G	—	uncertain significance
rs142272329	9:4,544,598	C/T	—	conflicting classifications of pathogenicity
rs770853913	9:4,544,601	C/G	—	uncertain significance
rs2228621	9:4,544,624	T/A	—	benign
rs142903137	9:4,544,640	C/T	—	benign
rs750142585	9:4,544,648	T/A	—	uncertain significance
rs114623304	9:4,544,670	C/G	—	benign
rs45518336	9:4,544,721	A/T	—	benign
rs4641119	9:4,544,907	A/C	—	benign
rs7856675	9:4,555,305	A/G	regulatory region variant	—
rs10974620	9:4,557,296	C/T	—	—
rs7858819	9:4,559,892	C/T	regulatory region variant	—
rs10974624	9:4,561,374	C/T	—	benign
rs72694015	9:4,561,421	C/T	—	benign
rs9407286	9:4,561,426	T/C	—	benign
rs79429045	9:4,561,477	C/T	—	benign
rs144425673	9:4,561,478	G/A	—	uncertain significance
rs797045967	9:4,561,485	T/C	—	uncertain significance
rs17855568	9:4,561,490	C/A	—	uncertain significance
rs1345352806	9:4,561,526	A/G	—	uncertain significance
rs147832850	9:4,561,527	T/C	—	conflicting classifications of pathogenicity
rs10974625	9:4,561,596	G/A	—	benign
rs57816729	9:4,561,630	G/A	—	benign
rs1805311	9:4,561,651	G/A	—	benign
rs62542093	9:4,561,769	T/C	—	benign
rs201249462	9:4,564,404	G/A	—	uncertain significance
rs775713601	9:4,564,411	C/A	—	likely benign
rs763282092	9:4,564,416	C/A	—	uncertain significance
rs149969951	9:4,564,428	G/A	—	uncertain significance
rs2228622	9:4,564,432	G/A	synonymous variant	benign
rs1819290745	9:4,564,454	A/C	—	uncertain significance
rs79894628	9:4,565,834	A/G	—	benign
rs73383440	9:4,566,036	G/A	—	benign
rs774710357	9:4,566,042	A/C	—	uncertain significance
rs748386266	9:4,566,047	G/A	—	likely benign
rs1397256714	9:4,566,078	T/G	—	uncertain significance
rs371266520	9:4,566,093	A/C	—	likely benign
rs7022772	9:4,566,210	A/C	—	benign
rs3780413	9:4,567,353	C/G	intron variant	—
rs371593428	9:4,567,657	T/A	—	uncertain significance
rs770094009	9:4,567,667	A/G	—	no classifications from unflagged records
rs775390587	9:4,567,682	G/A	—	uncertain significance
rs183300590	9:4,567,704	C/T	—	uncertain significance
rs754854560	9:4,567,705	G/A	—	uncertain significance
rs374636530	9:4,567,748	T/C	—	uncertain significance
rs368929720	9:4,567,763	C/T	—	uncertain significance
rs76311603	9:4,567,773	A/G	—	benign
rs370778464	9:4,572,193	T/G	—	uncertain significance
rs143022823	9:4,572,254	C/T	—	conflicting classifications of pathogenicity
rs776215598	9:4,572,291	C/A	—	likely benign
rs1395056281	9:4,572,327	C/T	—	likely benign
rs116222972	9:4,572,371	C/T	—	benign
rs1293813233	9:4,572,395	A/C	—	uncertain significance
rs79266892	9:4,572,476	C/T	—	benign
rs3780412	9:4,572,480	T/C	intron variant	benign
rs141565364	9:4,572,568	G/A	—	benign
rs7871691	9:4,573,586	G/T	—	benign
rs368368579	9:4,573,903	C/G	—	uncertain significance
rs372322897	9:4,573,928	G/C	—	uncertain significance
rs142234531	9:4,573,946	G/A	—	uncertain significance
rs771833630	9:4,573,951	T/C	—	uncertain significance
rs1290975121	9:4,573,999	C/G	—	likely benign
rs1336317562	9:4,574,010	A/C	—	uncertain significance
rs12682807	9:4,574,022	A/C	splice region variant	benign
rs12004839	9:4,574,045	C/G	—	benign
rs35045656	9:4,574,081	G/T	—	benign
rs12551465	9:4,575,673	A/G	—	benign
rs376139002	9:4,576,018	T/C	—	uncertain significance
rs370168018	9:4,576,043	C/A	—	uncertain significance
rs34342853	9:4,576,045	T/C	—	uncertain significance
rs745891601	9:4,576,069	G/A	—	uncertain significance
rs375360666	9:4,576,086	G/A	—	uncertain significance
rs777564804	9:4,576,087	C/T	—	uncertain significance
rs301429	9:4,576,167	G/A	—	benign
rs2072657	9:4,576,451	G/T	—	benign
rs567586426	9:4,576,585	G/C	—	uncertain significance
rs201587651	9:4,576,595	G/A	—	uncertain significance
rs773968205	9:4,576,636	C/T	—	uncertain significance

Showing 100 of 189 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.